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ALG1-CDG: Clinical and molecular characterization of 39 unreported patients
Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over one hundred genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosac...
Tallennettuna:
Julkaisussa: | Hum Mutat |
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Päätekijät: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Aineistotyyppi: | Artigo |
Kieli: | Inglês |
Julkaistu: |
2016
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Aiheet: | |
Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4907823/ https://ncbi.nlm.nih.gov/pubmed/26931382 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22983 |
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